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Pure partial trisomy of 6p12.1-22.1 secondary to a familial 12/6 insertion in two malformed babies

Fogu, Giuseppa and Bandiera, Pasquale and Cambosu, Francesca and Carta, Anna Rita and Pilo, Laura and Serra, Gigliola and Soro, Giovanna and Tondi, Massimo Giorgio and Tusacciu, Gianni and Montella, Andrea Costantino Mario (2007) Pure partial trisomy of 6p12.1-22.1 secondary to a familial 12/6 insertion in two malformed babies. European Journal of Medical Genetics, Vol. 50 (2), p. 103-111. ISSN 1769-7212. Article.

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DOI: 10.1016/j.ejmg.2006.11.002

Abstract

We describe two malformed infants with trisomy 6p12.1–p22.1 due to 12/6 interchromosomal insertion. The phenotypic data observed in these patients are compared chiefly with a case cytogenetically similar described by Villa et al. [A. Villa, E.G. Gomez, L. Rodriguez, R.H. Rastrollo, M.E. Martinez Tallo, M.L. Martinez-Frias, Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3), Am. J. Med. Genet. 90 (2000) 369–375]. All three infants are trisomic for a genomic segment which largely overlaps that reported as duplicated in previous cases, but with the addition of a more proximal segment, extending from 6p12 to 6p21. We suggest that some of their phenotypic anomalies are due to the trisomy of this chromosomal region. We also speculate on the possible role played by the TFAP2B (Transcription Factor AP2-beta) gene, which is one of the genes mapped on the duplicated segment.

Item Type:Article
ID Code:512
Status:Published
Refereed:Yes
Uncontrolled Keywords:Partial trisomy 6p, interchromosomal insertion, FISH, TFAP2B
Subjects:Area 06 - Scienze mediche > MED/39 Neuropsichiatria infantile
Area 05 - Scienze biologiche > BIO/18 Genetica
Area 05 - Scienze biologiche > BIO/16 Anatomia umana
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
001 Università di Sassari > 03 Istituti > Neuropsichiatria infantile
Publisher:Elsevier Masson
ISSN:1769-7212
Copyright Holders:© 2006 Published by Elsevier Masson
Deposited On:18 Aug 2009 10:02

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